This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. [provided by RefSeq, Jul 2008]
Subcellular Location:
Cell membrane.
Tissue Specificity:
Primarily expressed in secondary lymphoid tissues by mature subsets of B cells. Detected in spleen, lymph node, peripheral blood lymphocytes, thymus, bone marrow, kidney, salivary gland, adrenal gland and uterus. Expressed a low levels in naive, germinal center and memory B cells but also expressed in NK cells (at protein level).
Post-translational modifications:
Phosphorylated on cytoplasmic tyrosines; required for interaction with protein tyrosine phosphatases and protein tyrosine kinases.
DISEASE:
Genetic variation in FCRL3 may be a cause of susceptibility to rheumatoid arthritis (RA) [MIM:36300]. It is a systemic inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures.
Genetic variation in FCRL3 may influence susceptibility to Graves disease, an autoimmune disorder associated with overactivity of the thyroid gland and hyperthyroidism.
Similarity:
Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
SWISS:
Q96P31
Gene ID:
115352
Database links:
Entrez Gene: 115352 Human
Omim: 606510 Human
SwissProt: Q96P31 Human
Unigene: 292449 Human
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